Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.S62C

SLC16A1

270 papers

RefSeq Summary

The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutation...

Pfam Domains

MFS_1aa 22–399UCSCMajor Facilitator Superfamily
MFS_1aa 330–482UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 16 member 1

HGNC Alias Symbols

MCT; MCT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003051.4
p.S62C
c.185C>G
Surrounding Variants
1 paper
NM_003051.4
p.S63C
c.188C>G
1 paper
NM_003051.4
p.M65V
c.193A>G
1 paper
NM_003051.4
p.S59A
c.175T>G
1 paper
NM_003051.4
p.L66F
c.198G>T
1 paper
NM_003051.4
p.L66F
c.198G>C
3 papers
NM_003051.4
p.V68I
c.202G>A
1 paper
NM_003051.4
p.S56I
c.167G>T
1 paper
NM_003051.4
p.M69L
c.205A>T
1 paper
NM_003051.4
p.M69L
c.205A>C
1 paper
NM_003051.4
p.M69I
c.207G>A
1 paper
NM_003051.4
p.A53P
c.157G>C
1 paper
NM_003051.4
p.G73R
c.217G>C
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